期刊
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
卷 21, 期 9, 页码 -出版社
MDPI
DOI: 10.3390/ijms21093371
关键词
actin; mutation; polymerization; myosin
资金
- British Heart Foundation [PG/15/2/31208, PG/07/095/23743]
Actin is a widely expressed protein found in almost all eukaryotic cells. In humans, there are six different genes, which encode specific actin isoforms. Disease-causing mutations have been described for each of these, most of which are missense. Analysis of the position of the resulting mutated residues in the protein reveals mutational hotspots. Many of these occur in regions important for actin polymerization. We briefly discuss the challenges in characterizing the effects of these actin mutations, with a focus on cardiac actin mutations.
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